Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study
Abstract Background and aims Hereditary transthyretin amyloidosis (ATTRv) should be considered in patients diagnosed with intravenous immunoglobulin (IVIg)-resistant chronic inflammatory demyelinating polyradiculoneuropathy (IVIg-NR CIDP). In this 1-year long, retrospective, multicentric study, an o...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03589-4 |
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| Summary: | Abstract Background and aims Hereditary transthyretin amyloidosis (ATTRv) should be considered in patients diagnosed with intravenous immunoglobulin (IVIg)-resistant chronic inflammatory demyelinating polyradiculoneuropathy (IVIg-NR CIDP). In this 1-year long, retrospective, multicentric study, an online questionnaire was sent to 1100 French healthcare professionals (HCPs) investigating: (i) how many IVIg-NR CIDP patients they followed; (ii) how many IVIg-NR CIDP patients had undergone TTR gene analysis; and (iii) how many IVIg-NR CIDP patients were eventually diagnosed with ATTRv. The questionnaire was sent every 3 months for 1 year and contained information on ATTRv clinical manifestations and diagnosis. Results One-hundred and ten (10%) HCPs responded. A total of 2131 patients with CIDP were identified, including 315 (22.1%) with IVIg-NR CIDP. TTR gene analysis was performed in 144 patients and was positive in 43 cases (29.9%). Conclusions This study demonstrates that ATTRv should be investigated systematically in patients diagnosed with IVIg-NR CIDP. HCP-directed information campaigns are useful for modifying diagnostic practices. |
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| ISSN: | 1750-1172 |